I agree that this site is using cookies. You can find further informations
here
.
X
Login
My folder (
0
)
Home
About us
Home About us
Our history
Profile
Press & public relations
Friends
The library in figures
Exhibitions
Projects
Training, internships, careers
Films
Services & Information
Home Services & Information
Lending and interlibrary loans
Returns and renewals
Training and library tours
My Account
Library cards
New to the library?
Download Information
Opening hours
Learning spaces
PC, WLAN, copy, scan and print
Catalogs and collections
Home Catalogs and Collections
Rare books and manuscripts
Digital collections
Subject Areas
Our sites
Home Our sites
Central Library
Law Library (Juridicum)
BB Business and Economics (BB11)
BB Physics and Electrical Engineering
TB Engineering and Social Sciences
TB Economics and Nautical Sciences
TB Music
TB Art & Design
TB Bremerhaven
Contact the library
Home Contact the library
Staff Directory
Open access & publishing
Home Open access & publishing
Reference management: Citavi & RefWorks
Publishing documents
Open Access in Bremen
Show Desktop-Version
Toggle navigation
Evila, Anni
33
results:
Search for persons
X
Format
Online (33)
Mediatypes
Articles (Online) (14)
OpenAccess-fulltext (19)
Sorted by: Relevance
Sorted by: Year
?
1
A novel FLNC frameshift and an OBSCN variant in a family wi..:
Rossi, Daniela
;
Palmio, Johanna
;
Evilä, Anni
...
PLOS ONE. 12 (2017) 10 - p. e0186642 , 2017
Link:
https://doi.org/10.1371/..
?
2
A 'second truncation' in TTN causes early onset recessive m..:
Harris, Elizabeth
;
Töpf, Ana
;
Vihola, Anna
...
Neuromuscular Disorders. 27 (2017) 11 - p. 1009-1017 , 2017
Link:
https://doi.org/10.1016/..
?
3
Targeted next-generation sequencing assay for detection of ..:
Evilä, Anni
;
Arumilli, Meharji
;
Udd, Bjarne
.
Neuromuscular Disorders. 26 (2016) 1 - p. 7-15 , 2016
Link:
https://doi.org/10.1016/..
?
4
Mutations inHSPB8causing a new phenotype of distal myopathy..:
Ghaoui, Roula
;
Palmio, Johanna
;
Brewer, Janice
...
Neurology. 86 (2016) 4 - p. 391-398 , 2016
Link:
https://doi.org/10.1212/..
?
5
Targeted Next-Generation Sequencing Reveals Novel TTN Mutat..:
Evilä, Anni
;
Palmio, Johanna
;
Vihola, Anna
...
Molecular Neurobiology. 54 (2016) 9 - p. 7212-7223 , 2016
Link:
https://doi.org/10.1007/..
?
6
The genetic basis of undiagnosed muscular dystrophies and m..:
Savarese, Marco
;
Di Fruscio, Giuseppina
;
Torella, Annalaura
...
Neurology. 87 (2016) 1 - p. 71-76 , 2016
Link:
https://doi.org/10.1212/..
?
7
Centronuclear myopathies: genotype–phenotype correlation an..:
Fattori, Fabiana
;
Maggi, Lorenzo
;
Bruno, Claudio
...
Journal of Neurology. 262 (2015) 7 - p. 1728-1740 , 2015
Link:
https://doi.org/10.1007/..
?
8
Novel mutations in DNAJB6 gene cause a very severe early-on..:
Palmio, Johanna
;
Jonson, Per Harald
;
Evilä, Anni
...
Neuromuscular Disorders. 25 (2015) 11 - p. 835-842 , 2015
Link:
https://doi.org/10.1016/..
?
9
SQSTM1splice site mutation in distal myopathy with rimmed v..:
Bucelli, Robert C.
;
Arhzaouy, Khalid
;
Pestronk, Alan
...
Neurology. 85 (2015) 8 - p. 665-674 , 2015
Link:
https://doi.org/10.1212/..
?
10
Isolated semitendinosus involvement in the initial stages o..:
Tasca, Giorgio
;
Evilä, Anni
;
Pane, Marika
...
Neuromuscular Disorders. 24 (2014) 12 - p. 1118-1119 , 2014
Link:
https://doi.org/10.1016/..
?
11
Atypical phenotypes in titinopathies explained by second ti..:
Evilä, Anni
;
Vihola, Anna
;
Sarparanta, Jaakko
...
Annals of Neurology. 75 (2014) 2 - p. 230-240 , 2014
Link:
https://doi.org/10.1002/..
?
12
Welander distal myopathy is caused by a mutation in the RNA..:
Hackman, Peter
;
Sarparanta, Jaakko
;
Lehtinen, Sara
...
Annals of Neurology. 73 (2013) 4 - p. 500-509 , 2013
Link:
https://doi.org/10.1002/..
?
13
Titin mutation segregates with hereditary myopathy with ear..:
Pfeffer, Gerald
;
Elliott, Hannah R.
;
Griffin, Helen
...
Brain. 135 (2012) 6 - p. 1695-1713 , 2012
Link:
https://doi.org/10.1093/..
?
14
Dominantly inherited distal nemaline/cap myopathy caused by..:
Kiiski, Kirsi J.
;
Lehtokari, Vilma-Lotta
;
Vihola, Anna K.
...
Neuromuscular Disorders. 29 (2019) 2 - p. 97-107 , 2019
Link:
https://doi.org/10.1016/..
?
15
A 'second truncation' in TTN causes early onset recessive m..:
Harris, Elizabeth
;
Töpf, Ana
;
Vihola, Anna
...
10.1016/j.nmd.2017.06.013. , 2019
Link:
http://hdl.handle.net/10..
1-15